Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression.

Background: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced understanding of the disease by combining multi-omics analysis with prior knowledge.

A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.

Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.

Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.

Complexity and recurrence of body surface electrocardiograms correlate with estimated reentrant atrial activity using electrocardiographic imaging in atrial fibrillation patients.

Background: Complexity and signal recurrence metrics obtained from body surface potential mapping (BSPM) allow quantifying atrial fibrillation (AF) substrate complexity. This study aims to correlate electrocardiographic imaging (ECGI) detected reentrant patterns with BSPM-calculated signal complexity and recurrence metrics.

Methods: BSPM signals were recorded from 28 AF patients (17 male, 11 women, 62.

Smart Polymeric 3D Microscaffolds Hosting Spheroids for Neuronal Research via Quantum Metrology.

Toward the aim of reducing animal testing, innovative in vitro models are required. Here, this study proposes a novel smart polymeric microscaffold to establish an advanced 3D model of dopaminergic neurons. These scaffolds are fabricated with Ormocomp via Two-Photon Polymerization.

Interobserver and intraobserver variability among different vendors for mitral valve assessment: implications for transcatheter mitral valve repair.

Purpose: Pre-procedural imaging is critical for transcatheter mitral valve repair planning in patients with mitral valve disease. As differences among various measurement techniques for valve evaluation are still poorly understood, we sought to assess the intra- and interobserver agreement of complex measurements derived from a prototype mitral evaluation tool (Siemens) and a commercially available tool (CVI42) using both saddle- and D-shaped mitral annulus techniques.

Materials And Methods: Multiphasic cardiac computed tomography angiography data were loaded into each software.

Beneficial vs harmful effects of pharmacological treatment of patent ductus arteriosus: A Bayesian meta-analysis.

Background: Randomized controlled trials (RCTs) have failed to demonstrate the beneficial effects of the pharmacological treatment of patent ductus arteriosus (PDA) in preterm infants. We conducted a Bayesian model averaged (BMA) meta-analysis of RCTs comparing the pharmacological treatment of PDA with placebo or expectant treatment.

Methods: We searched for RCTs including infants with gestational age (GA) ≤ 32 weeks and with a rate of open-label treatment of less than 25% in the control arm.

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.

Objective: The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).

Method: A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.

A Neuron-Like Cellular Model for Severe Tinnitus Associated with Rare Variations in the ANK2 Gene.

Tinnitus is the perception of sound without an external source, often associated with changes in the auditory pathway and different brain regions. Recent research revealed an overload of missense variants in the ANK2 gene in individuals with severe tinnitus. ANK2, encoding ankyrin-B, regulates axon branching and inhibits microtubule invasion.

Choroid plexus volume is enlarged in long COVID and associated with cognitive and brain changes.

Patients with post-COVID condition (PCC) present with diverse symptoms which persist at long-term after SARS-CoV-2 infection. Among these symptoms, cognitive impairment is one of the most prevalent and has been related to brain structural and functional changes. The underlying mechanisms of these cognitive and brain alterations remain elusive but neuroinflammation and immune mechanisms have been majorly considered.

Prevalence and molecular characterisation of Balantioides coli in pigs raised in Italy.

Balantioides coli is the only ciliated protist of both human and veterinary interest and colonises the large intestine of several hosts, including humans and pigs. Given the scarcity of data on B. coli circulation in pigs in Italy, a study was planned to record its prevalence and genetic types and compare the analytical sensitivity of two copromicroscopic techniques.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.

Single and multitarget stereotactic radiosurgery (SRS) with single isocenter in the treatment of multiple brain metastases (BM): institutional experience.

Introduction: SRS for the treatment of limited brain metastases (BM) is widely accepted, but there are still limitations in the management of numerous BM. Frameless single-isocenter multitarget SRS is a novel technique that allows for rapid treatment delivery to multiple BM. We report our preliminary clinical, dosimetric, and patient´s shifts outcomes with this technique.

Current evidence on powered versus manual circular staplers in colorectal surgery: a systematic review and meta-analysis.

Purpose: This meta-analysis aims to evaluate the efficacy of powered circular staplers (PCS) compared to manual circular staplers (MCS) in reducing anastomotic leakage (AL) and postoperative bleeding (AB) in colorectal surgery.

Methods: Extensive searches were performed in the Embase, PubMed, and SCOPUS electronic bibliographic databases. Most studies were of an observational nature, and only one randomized clinical trial was identified.

Advancing pancreatic cancer research and therapeutics: the transformative role of organoid technology.

Research on pancreatic cancer has transformed with the advent of organoid technology, providing a better platform that closely mimics cancer biology in vivo. This review highlights the critical advancements facilitated by pancreatic organoid models in understanding disease progression, evaluating therapeutic responses, and identifying biomarkers. These three-dimensional cultures enable the proper recapitulation of the cellular architecture and genetic makeup of the original tumors, providing insights into the complex molecular and cellular dynamics at various stages of pancreatic ductal adenocarcinoma (PDAC).

Methane emissions from the Nord Stream subsea pipeline leaks.

The amount of methane released to the atmosphere from the Nord Stream subsea pipeline leaks remains uncertain, as reflected in a wide range of estimates. A lack of information regarding the temporal variation in atmospheric emissions has made it challenging to reconcile pipeline volumetric (bottom-up) estimates with measurement-based (top-down) estimates. Here we simulate pipeline rupture emission rates and integrate these with methane dissolution and sea-surface outgassing estimates to model the evolution of atmospheric emissions from the leaks.

Autoactive CNGC15 enhances root endosymbiosis in legume and wheat.

Nutrient acquisition is crucial for sustaining life. Plants develop beneficial intracellular partnerships with arbuscular mycorrhiza (AM) and nitrogen-fixing bacteria to surmount the scarcity of soil nutrients and tap into atmospheric dinitrogen, respectively. Initiation of these root endosymbioses requires symbiont-induced oscillations in nuclear calcium (Ca) concentrations in root cells.

Specification of claustro-amygdalar and palaeocortical neurons and circuits.

The ventrolateral pallial (VLp) excitatory neurons in the claustro-amygdalar complex and piriform cortex (PIR; which forms part of the palaeocortex) form reciprocal connections with the prefrontal cortex (PFC), integrating cognitive and sensory information that results in adaptive behaviours. Early-life disruptions in these circuits are linked to neuropsychiatric disorders, highlighting the importance of understanding their development. Here we reveal that the transcription factors SOX4, SOX11 and TFAP2D have a pivotal role in the development, identity and PFC connectivity of these excitatory neurons.

Elemental cryo-imaging reveals SOS1-dependent vacuolar sodium accumulation.

Increasing soil salinity causes significant crop losses globally; therefore, understanding plant responses to salt (sodium) stress is of high importance. Plants avoid sodium toxicity through subcellular compartmentation by intricate processes involving a high level of elemental interdependence. Current technologies to visualize sodium, in particular, together with other elements, are either indirect or lack in resolution.

Feasibility and potential effect of a pilot blended digital behavior change intervention promoting sustainable diets over a year.

Well-designed effective interventions promoting sustainable diets are urgently needed to benefit both human and planetary health. This study evaluated the feasibility, acceptability, and potential impact of a pilot blended digital intervention aimed at promoting sustainable diets. We conducted a series of ABA n-of-1 trials with baseline, intervention, and follow-up phases over the course of a year, involving twelve participants.

Autologous haematopoietic stem cell transplantation for treatment of multiple sclerosis and neuromyelitis optica spectrum disorder - recommendations from ECTRIMS and the EBMT.

Autologous haematopoietic stem cell transplantation (AHSCT) is a treatment option for relapsing forms of multiple sclerosis (MS) that are refractory to disease-modifying therapy (DMT). AHSCT after failure of high-efficacy DMT in aggressive forms of relapsing-remitting MS is a generally accepted indication, yet the optimal placement of this approach in the treatment sequence is not universally agreed upon. Uncertainties also remain with respect to other indications, such as in rapidly evolving, severe, treatment-naive MS, progressive MS, and neuromyelitis optica spectrum disorder (NMOSD).

Analyzing the impact of prolonged pauses on soccer performance.

During breaks or playing period changes, players' accumulated workload, physiological alterations, body composition factors, sleep, and health-related qualities can factor into soccer performance. This research examined the impact of prolonged pauses, including breaks due to the 2022 FIFA World Cup and an earthquake tragedy, on running displacements and ball in-play duration during the 2022/23 Turkish Super League season. The secondary purpose was to determine the relationship between performance metrics and competition outcomes (i.

Abnormality detection in nailfold capillary images using deep learning with EfficientNet and cascade transfer learning.

Nailfold Capillaroscopy (NFC) is a simple, non-invasive diagnostic tool used to detect microvascular changes in nailfold. Chronic pathological changes associated with a wide range of systemic diseases, such as diabetes, cardiovascular disorders, and rheumatological conditions like systemic sclerosis, can manifest as observable microvascular changes in the terminal capillaries of nailfolds. The current gold standard relies on experts performing manual evaluations, which is an exhaustive time-intensive, and subjective process.

Resting state BOLD-perfusion coupling patterns using multiband multi-echo pseudo-continuous arterial spin label imaging.

The alteration of neurovascular coupling (NVC), where acute localized blood flow increases following neural activity, plays a key role in several neurovascular processes including aging and neurodegeneration. While not equivalent to NVC, the coupling between simultaneously measured cerebral blood flow (CBF) with arterial spin labeling (ASL) and blood oxygenation dependent (BOLD) signals, can also be affected. Moreover, the acquisition of BOLD data allows the assessment of resting state (RS) fMRI metrics.